OMIA group 1544
Hypotrichosis with coat-colour dilution (rat-tail syndrome)
The chain reaches the human disease oculocutaneous albinism type 2, which Mondo defines as: “Oculocutaneous albinism type 2 (OCA2) is a type of OCA and the most common form of OCA seen in the African population, characterized by variable hypopigmentation of the skin and hair, numerous characteristic ocular changes and misrouting of the optic nerves at the chiasm.”
The chain
From the animal disease to the drugs. The page shows what each step found and where the chain stopped. It does not say whether the animal is a model of a human disease.
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Animal disease
Reached
OMIA records it in 1 species entry marked as a defect.
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Human disease
Reached
1 Mondo disease.
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Human gene
Reached
2 human genes.
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Target evidence
Reached
2 Open Targets associations, with a best score of 0.50.
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Drugs
Reached
5 ChEMBL drugs, 2 approved. None has been tested for this disease.
Natural-model score
How complete and how well supported the chain to each human disease is, out of 100, by stated rules. It does not say that the animal is a validated model of the human disease. How the score works.
49.0 out of 100
| Part | Computed from | Points |
|---|---|---|
| Target evidence | Open Targets score of 0.50 | 17.5 of 35 |
| Drugs | Drugs act on its genes, but no drug has been tested for this disease | 2.5 of 25 |
| Ortholog | One to one ortholog | 20.0 of 20 |
| Both routes | One route found this disease | 5.0 of 10 |
| Species | 1 naturally occurring species entry marked as a defect | 4.0 of 10 |
Species
The chain follows only the species entries that OMIA marks as a defect.
| Species | Scientific name | OMIA entry | A defect |
|---|---|---|---|
| domestic cattle | Bos taurus | OMIA:001544-9913 | Yes |
Genes
Each gene OMIA records for a species entry, and the human gene it reaches through Ensembl's orthologs.
| Species | Animal gene | Human gene | Ortholog |
|---|---|---|---|
| domestic cattle | MC1R melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor) NCBI Gene 281298 | MC1R Ensembl | one to one |
| domestic cattle | PMEL premelanosome protein NCBI Gene 281487 | PMEL Ensembl | one to one |
Human diseases
Two routes lead from an OMIA group to a Mondo human disease: OMIA's own Mondo link, and the group's OMIM numbers through Mondo's cross-references.
- OMIA's own Mondo link: OMIA links the group to no Mondo disease.
- OMIA's OMIM numbers: found a disease.
| Mondo disease | Name | Found by |
|---|---|---|
| MONDO:0008746 | oculocutaneous albinism type 2 Oculocutaneous albinism type 2 (OCA2) is a type of OCA and the most common form of OCA seen in the African population, characterized by variable hypopigmentation of the skin and hair, numerous characteristic ocular changes and misrouting of the optic nerves at the chiasm. | OMIA's OMIM numbers |
Target evidence
Each Open Targets association between one of the group's human genes and one of its human diseases, with its overall score and the score for each kind of evidence.
| Human gene | Human disease | Score | Evidence | Kinds of evidence |
|---|---|---|---|---|
| MC1R | oculocutaneous albinism type 2 | 0.50 | 51 | Genetic association 0.65 Animal model 0.50 Literature 0.17 |
| PMEL | oculocutaneous albinism type 2 | 0.06 | 2 | Animal model 0.49 |
Drugs
Drugs act on MC1R and PMEL, but none has been tested for this disease.
| Drug | Acts on | How | Latest stage | Tested for this disease |
|---|---|---|---|---|
| Afamelanotide | MC1R | agonist | Approved | No |
| Tebentafusp | PMEL | binding agent | Approved | No |
| Dersimelagon | MC1R | agonist | Phase 3 | No |
| Modimelanotide | MC1R | agonist | Phase 2 | No |
| Imc-Gp100 | PMEL | cross-linking agent | Early phase 1 | No |
The drug data is ChEMBL's, under CC BY-SA 3.0, and came through Open Targets release 26.09.